Text Box: METABOLIC DISEASE:  
THE IMPORTANCE OF A PRECOCIOUS DIAGNOSTIC
Capelli B, Marano L 
Bs As, Argentina

Objective: To present the neonatologic community with a case of isovaleric acidemia that was diagnosed and treated in a precocious form, in order to inform on the importance of the differential diagnosis with a non frequent disease such as the congenital errors of metabolism.
Materials and methods: The patient was a product of a finished non gestation complicated. Family antecedents: 36 year-old mother, first son healthy, second son died on the fifteenth day of life with a diagnosis of metabolopatia (isovaleric acidemia).
The new born began precocius breast feeding and the routine studies (gases in blood-glucemia) were normal both at begining and later check ups. In the clinical exam it was hipotonic, the antropometric parameters were withing normal ranges and he did not present phenotypics abnormalities.  When he was 12 hours old, blood and urine samples were taken for carnitine determinations, obtaining a high value of isovaleric carnitine that was corroborated with later samples, the other determinations were normal. With these results you can get to the diagnosis of isovaleric acidemia. Treatment began on the second day of life with a poor diet of leucine, which was obtained with the mixture of an artificial milk and a special milk, corn oil polimerosa, contributing with 130 cal/k/d, adding supplementary contributions of carnitine and glycine. The patient¡¯s evolution has been normal, with growth and development in accordance to his age and he is still fed with the formulas preciously mentioned.
Conclusion: The precocious and wide diagnosis makes the          survival of these patients possible under physical and neurological normal conditions.

1980